ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2800_2803del (p.Arg934fs)

dbSNP: rs758020565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733790 SCV001984720 pathogenic Familial hypokalemia-hypomagnesemia 2020-04-28 criteria provided, single submitter clinical testing

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